Summary

Systemic autoinflammatory diseases (AIDs) are disorders resulting from inappropriate activation of the innate immune system. While 4 genes (MEFV, NLRPS, TNFRSF1A, MVK) explain most clinical diagnoses, recent use of expanded genetic testing has identified numerous monogenic AIDs1.To further investigate the utility of multigene panel testing for AIDs, we performed a retrospective analysis of results from 912 individuals who received the Autoinflammatory Syndrome Panel at Blueprint Genetics. Key findings include 

• Overall, 7% of individuals in this cohort received a positive result. 

• Most positive results were in MEFV, NLRP3, MVK, and TNFRSF1A; however, 11.5% of positive results were in other genes, all of which may inform treatment decisions 

• Single MEFV pathogenic variants accounted for over half (57%) of positive results for individuals with Familial Mediterranean Fever, which supports mounting evidence for an autosomal dominant presentation.  

These data support the use of a multi-gene panel for individuals with suspected AIDs. 

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Authors:

Victoria Howell, Kimberly Gall, Alicia Scocchia, Lotta Koskinen, Inka Saarinen, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo 

References:

Bousfiha A, Moundir A, Tangye SG, et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022;42(7):1508-1520. doi:10.1007/s10875-022-01352-z